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Q9NTJ4

- MA2C1_HUMAN

UniProt

Q9NTJ4 - MA2C1_HUMAN

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Protein

Alpha-mannosidase 2C1

Gene

MAN2C1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Catalytic activityi

Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.

Cofactori

Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi260 – 2601ZincBy similarity
Metal bindingi262 – 2621ZincBy similarity
Active sitei372 – 3721NucleophileBy similarity
Metal bindingi372 – 3721ZincBy similarity
Metal bindingi577 – 5771ZincBy similarity

GO - Molecular functioni

  1. alpha-mannosidase activity Source: UniProtKB-EC
  2. carbohydrate binding Source: InterPro
  3. zinc ion binding Source: InterPro

GO - Biological processi

  1. mannose metabolic process Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Keywords - Ligandi

Metal-binding, Zinc

Protein family/group databases

CAZyiGH38. Glycoside Hydrolase Family 38.

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-mannosidase 2C1 (EC:3.2.1.24)
Alternative name(s):
Alpha mannosidase 6A8B
Alpha-D-mannoside mannohydrolase
Mannosidase alpha class 2C member 1
Gene namesi
Name:MAN2C1
Synonyms:MANA, MANA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:6827. MAN2C1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30576.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10401040Alpha-mannosidase 2C1PRO_0000206907Add
BLAST

Proteomic databases

MaxQBiQ9NTJ4.
PaxDbiQ9NTJ4.
PRIDEiQ9NTJ4.

PTM databases

PhosphoSiteiQ9NTJ4.

Expressioni

Gene expression databases

BgeeiQ9NTJ4.
CleanExiHS_MAN2C1.
ExpressionAtlasiQ9NTJ4. baseline.
GenevestigatoriQ9NTJ4.

Organism-specific databases

HPAiHPA040627.

Interactioni

Protein-protein interaction databases

BioGridi110296. 8 interactions.
IntActiQ9NTJ4. 2 interactions.
MINTiMINT-1035933.
STRINGi9606.ENSP00000267978.

Structurei

3D structure databases

ProteinModelPortaliQ9NTJ4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 38 family.Curated

Phylogenomic databases

eggNOGiCOG0383.
GeneTreeiENSGT00390000006338.
HOGENOMiHOG000048425.
HOVERGENiHBG055567.
InParanoidiQ9NTJ4.
KOiK01191.
OMAiCHMAPSE.
OrthoDBiEOG78M015.
PhylomeDBiQ9NTJ4.
TreeFamiTF300335.

Family and domain databases

Gene3Di1.20.1270.50. 1 hit.
3.20.110.10. 1 hit.
InterProiIPR011013. Gal_mutarotase_SF_dom.
IPR011330. Glyco_hydro/deAcase_b/a-brl.
IPR027291. Glyco_hydro_38/57_N.
IPR011682. Glyco_hydro_38_C.
IPR015341. Glyco_hydro_38_cen.
IPR000602. Glyco_hydro_38_N.
IPR028995. Glyco_hydro_57/38_cen.
[Graphical view]
PfamiPF09261. Alpha-mann_mid. 1 hit.
PF01074. Glyco_hydro_38. 1 hit.
PF07748. Glyco_hydro_38C. 1 hit.
[Graphical view]
SMARTiSM00872. Alpha-mann_mid. 1 hit.
[Graphical view]
SUPFAMiSSF74650. SSF74650. 1 hit.
SSF88688. SSF88688. 1 hit.
SSF88713. SSF88713. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NTJ4-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAAPALKHW RTTLERVEKF VSPLYFTDCN LRGRLFGASC PVAVLSSFLT
60 70 80 90 100
PERLPYQEAV QRDFRPAQVG DSFGPTWWTC WFRVELTIPE AWVGQEVHLC
110 120 130 140 150
WESDGEGLVW RDGEPVQGLT KEGEKTSYVL TDRLGERDPR SLTLYVEVAC
160 170 180 190 200
NGLLGAGKGS MIAAPDPEKM FQLSRAELAV FHRDVHMLLV DLELLLGIAK
210 220 230 240 250
GLGKDNQRSF QALYTANQMV NVCDPAQPET FPVAQALASR FFGQHGGESQ
260 270 280 290 300
HTIHATGHCH IDTAWLWPFK ETVRKCARSW VTALQLMERN PEFIFACSQA
310 320 330 340 350
QQLEWVKSRY PGLYSRIQEF ACRGQFVPVG GTWVEMDGNL PSGEAMVRQF
360 370 380 390 400
LQGQNFFLQE FGKMCSEFWL PDTFGYSAQL PQIMHGCGIR RFLTQKLSWN
410 420 430 440 450
LVNSFPHHTF FWEGLDGSRV LVHFPPGDSY GMQGSVEEVL KTVANNRDKG
460 470 480 490 500
RANHSAFLFG FGDGGGGPTQ TMLDRLKRLS NTDGLPRVQL SSPRQLFSAL
510 520 530 540 550
ESDSEQLCTW VGELFLELHN GTYTTHAQIK KGNRECERIL HDVELLSSLA
560 570 580 590 600
LARSAQFLYP AAQLQHLWRL LLLNQFHDVV TGSCIQMVAE EAMCHYEDIR
610 620 630 640 650
SHGNTLLSAA AAALCAGEPG PEGLLIVNTL PWKRIEVMAL PKPGGAHSLA
660 670 680 690 700
LVTVPSMGYA PVPPPTSLQP LLPQQPVFVV QETDGSVTLD NGIIRVKLDP
710 720 730 740 750
TGRLTSLVLV ASGREAIAEG AVGNQFVLFD DVPLYWDAWD VMDYHLETRK
760 770 780 790 800
PVLGQAGTLA VGTEGGLRGS AWFLLQISPN SRLSQEVVLD VGCPYVRFHT
810 820 830 840 850
EVHWHEAHKF LKVEFPARVR SSQATYEIQF GHLQRPTHYN TSWDWARFEV
860 870 880 890 900
WAHRWMDLSE HGFGLALLND CKYGASVRGS ILSLSLLRAP KAPDATADTG
910 920 930 940 950
RHEFTYALMP HKGSFQDAGV IQAAYSLNFP LLALPAPSPA PATSWSAFSV
960 970 980 990 1000
SSPAVVLETV KQAESSPQRR SLVLRLYEAH GSHVDCWLHL SLPVQEAILC
1010 1020 1030 1040
DLLERPDPAG HLTLRDNRLK LTFSPFQVLS LLLVLQPPPH
Length:1,040
Mass (Da):115,835
Last modified:October 1, 2000 - v1
Checksum:i2B40AE6E03AC1E3C
GO
Isoform 2 (identifier: Q9NTJ4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     913-935: Missing.

Note: No experimental confirmation available.

Show »
Length:1,017
Mass (Da):113,461
Checksum:i90AFFF46F25F5294
GO
Isoform 3 (identifier: Q9NTJ4-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     201-299: Missing.

Note: No experimental confirmation available.

Show »
Length:941
Mass (Da):104,690
Checksum:iF2AB8C70108FB535
GO
Isoform 4 (identifier: Q9NTJ4-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     650-682: ALVTVPSMGYAPVPPPTSLQPLLPQQPVFVVQE → GLTPSPGDSA...DSASRPPPTK

Note: Gene prediction based on EST data.

Show »
Length:1,057
Mass (Da):117,187
Checksum:iD2F034EDEC3EB019
GO

Sequence cautioni

The sequence AAC00190.2 differs from that shown. Reason: Frameshift at position 1013.
The sequence AAC00568.1 differs from that shown. Reason: Frameshift at position 1013.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti6 – 61A → F in AAC00190. 1 PublicationCurated
Sequence conflicti14 – 141L → F in AAC00190. 1 PublicationCurated
Sequence conflicti24 – 241L → I in AAC00190. 1 PublicationCurated
Sequence conflicti170 – 1701M → I in AAC00190. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti323 – 3231R → C.1 Publication
Corresponds to variant rs200595616 [ dbSNP | Ensembl ].
VAR_069180
Natural varianti818 – 8181R → H.
Corresponds to variant rs58557444 [ dbSNP | Ensembl ].
VAR_061192
Natural varianti950 – 9501V → M.
Corresponds to variant rs3803467 [ dbSNP | Ensembl ].
VAR_049211
Natural varianti960 – 9601V → I.1 Publication
Corresponds to variant rs3803466 [ dbSNP | Ensembl ].
VAR_021914
Natural varianti975 – 9751R → K.
Corresponds to variant rs5745934 [ dbSNP | Ensembl ].
VAR_049212

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei201 – 29999Missing in isoform 3. 1 PublicationVSP_046395Add
BLAST
Alternative sequencei650 – 68233ALVTV…FVVQE → GLTPSPGDSAQHGLCSCSSP HLTAAPAAPAACVRSARAPT DSASRPPPTK in isoform 4. CuratedVSP_046895Add
BLAST
Alternative sequencei913 – 93523Missing in isoform 2. 1 PublicationVSP_046375Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF044414 mRNA. Translation: AAC00190.2. Frameshift.
AL136876 mRNA. Translation: CAB66810.1.
AK225145 mRNA. No translation available.
AC068338 Genomic DNA. No translation available.
CH471136 Genomic DNA. Translation: EAW99253.1.
BC050550 mRNA. Translation: AAH50550.1.
BC080191 mRNA. Translation: AAH80191.1.
U37248 mRNA. Translation: AAC00568.1. Sequence problems.
CCDSiCCDS32298.1. [Q9NTJ4-1]
CCDS58389.1. [Q9NTJ4-3]
CCDS58390.1. [Q9NTJ4-2]
CCDS58391.1. [Q9NTJ4-4]
PIRiT46931.
RefSeqiNP_001243423.1. NM_001256494.1. [Q9NTJ4-4]
NP_001243424.1. NM_001256495.1. [Q9NTJ4-2]
NP_001243425.1. NM_001256496.1. [Q9NTJ4-3]
NP_006706.2. NM_006715.3. [Q9NTJ4-1]
UniGeneiHs.26232.
Hs.598731.

Genome annotation databases

EnsembliENST00000267978; ENSP00000267978; ENSG00000140400. [Q9NTJ4-1]
ENST00000563622; ENSP00000454589; ENSG00000140400. [Q9NTJ4-3]
ENST00000565683; ENSP00000457788; ENSG00000140400. [Q9NTJ4-4]
ENST00000569482; ENSP00000455998; ENSG00000140400. [Q9NTJ4-2]
ENST00000618257; ENSP00000479988; ENSG00000140400.
GeneIDi4123.
KEGGihsa:4123.
UCSCiuc002baf.4. human. [Q9NTJ4-1]
uc002bah.4. human.

Polymorphism databases

DMDMi27923805.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF044414 mRNA. Translation: AAC00190.2 . Frameshift.
AL136876 mRNA. Translation: CAB66810.1 .
AK225145 mRNA. No translation available.
AC068338 Genomic DNA. No translation available.
CH471136 Genomic DNA. Translation: EAW99253.1 .
BC050550 mRNA. Translation: AAH50550.1 .
BC080191 mRNA. Translation: AAH80191.1 .
U37248 mRNA. Translation: AAC00568.1 . Sequence problems.
CCDSi CCDS32298.1. [Q9NTJ4-1 ]
CCDS58389.1. [Q9NTJ4-3 ]
CCDS58390.1. [Q9NTJ4-2 ]
CCDS58391.1. [Q9NTJ4-4 ]
PIRi T46931.
RefSeqi NP_001243423.1. NM_001256494.1. [Q9NTJ4-4 ]
NP_001243424.1. NM_001256495.1. [Q9NTJ4-2 ]
NP_001243425.1. NM_001256496.1. [Q9NTJ4-3 ]
NP_006706.2. NM_006715.3. [Q9NTJ4-1 ]
UniGenei Hs.26232.
Hs.598731.

3D structure databases

ProteinModelPortali Q9NTJ4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110296. 8 interactions.
IntActi Q9NTJ4. 2 interactions.
MINTi MINT-1035933.
STRINGi 9606.ENSP00000267978.

Protein family/group databases

CAZyi GH38. Glycoside Hydrolase Family 38.

PTM databases

PhosphoSitei Q9NTJ4.

Polymorphism databases

DMDMi 27923805.

Proteomic databases

MaxQBi Q9NTJ4.
PaxDbi Q9NTJ4.
PRIDEi Q9NTJ4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000267978 ; ENSP00000267978 ; ENSG00000140400 . [Q9NTJ4-1 ]
ENST00000563622 ; ENSP00000454589 ; ENSG00000140400 . [Q9NTJ4-3 ]
ENST00000565683 ; ENSP00000457788 ; ENSG00000140400 . [Q9NTJ4-4 ]
ENST00000569482 ; ENSP00000455998 ; ENSG00000140400 . [Q9NTJ4-2 ]
ENST00000618257 ; ENSP00000479988 ; ENSG00000140400 .
GeneIDi 4123.
KEGGi hsa:4123.
UCSCi uc002baf.4. human. [Q9NTJ4-1 ]
uc002bah.4. human.

Organism-specific databases

CTDi 4123.
GeneCardsi GC15M075648.
HGNCi HGNC:6827. MAN2C1.
HPAi HPA040627.
MIMi 154580. gene.
neXtProti NX_Q9NTJ4.
PharmGKBi PA30576.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0383.
GeneTreei ENSGT00390000006338.
HOGENOMi HOG000048425.
HOVERGENi HBG055567.
InParanoidi Q9NTJ4.
KOi K01191.
OMAi CHMAPSE.
OrthoDBi EOG78M015.
PhylomeDBi Q9NTJ4.
TreeFami TF300335.

Miscellaneous databases

ChiTaRSi MAN2C1. human.
GenomeRNAii 4123.
NextBioi 16188.
PROi Q9NTJ4.
SOURCEi Search...

Gene expression databases

Bgeei Q9NTJ4.
CleanExi HS_MAN2C1.
ExpressionAtlasi Q9NTJ4. baseline.
Genevestigatori Q9NTJ4.

Family and domain databases

Gene3Di 1.20.1270.50. 1 hit.
3.20.110.10. 1 hit.
InterProi IPR011013. Gal_mutarotase_SF_dom.
IPR011330. Glyco_hydro/deAcase_b/a-brl.
IPR027291. Glyco_hydro_38/57_N.
IPR011682. Glyco_hydro_38_C.
IPR015341. Glyco_hydro_38_cen.
IPR000602. Glyco_hydro_38_N.
IPR028995. Glyco_hydro_57/38_cen.
[Graphical view ]
Pfami PF09261. Alpha-mann_mid. 1 hit.
PF01074. Glyco_hydro_38. 1 hit.
PF07748. Glyco_hydro_38C. 1 hit.
[Graphical view ]
SMARTi SM00872. Alpha-mann_mid. 1 hit.
[Graphical view ]
SUPFAMi SSF74650. SSF74650. 1 hit.
SSF88688. SSF88688. 1 hit.
SSF88713. SSF88713. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of a human full-length cDNA encoding an alpha-mannosidase."
    Li B., Ma F.-R., Shi G.-X., Zhao F.-T., Li J., Li L., Wang Y., Cai Y.-Y., Zhu L.-P.
    Ji Chu Yi Xue Yu Lin Chuang 19:409-415(1999)
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  3. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ILE-960.
    Tissue: Cerebellum.
  4. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT CYS-323.
    Tissue: Skin and Uterus.
  7. "Cloning of a human cDNA homologous to the cDNA encoding a rat ER alpha-mannosidase."
    Zhang L.-X., Zhu L.-P., Shi W., Ma F.-R.
    Zhonghua Wei Sheng Wu Xue He Mian Yi Xue Za Zhi 17:34-39(1997)
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 630-1040 (ISOFORM 1).
    Tissue: Tonsil.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiMA2C1_HUMAN
AccessioniPrimary (citable) accession number: Q9NTJ4
Secondary accession number(s): H3BMX2
, H3BQY8, H3BUT6, Q13358, Q68EM8, Q9UL64
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: October 1, 2000
Last modified: October 29, 2014
This is version 123 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3